Canonical Allele Identifier: PA2827010206
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49342
ClinVar RCV Id: RCV000042602 RCV003298086
ClinVar Variation Id: 1744965
ClinVar RCV Id: RCV002335678
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Asn1566Lys
CA021576
NM_001318829.2:c.4698C>G
CA394311454
NM_001318829.2:c.4698C>A